Biomaterial Database

Therapy of X-linked adrenoleukodystrophy. 2006

Hugo W Moser

Kennedy Krieger Institute, Johns Hopkins University, 707 North Broadway, Baltimore, MD 21205, USA. moser@kennedykrieger.org

Current therapies for X-linked adrenoleukodystrophy (X-ALD) include replacement therapy with adrenal steroids, which is mandatory for all patients with impaired adrenal function but does not alter neurological progression significantly; dietary therapy with "Lorenzo's Oil," which appears to have a preventive effect in asymptomatic boys whose brain MRI is normal; and hematopoietic stem cell transplantation in patients in the early stage of the cerebral inflammatory phenotype. Application of these interventions requires careful assessment of the patients' phenotype, which often changes over time. Family screening provides important opportunities for disease prevention.

UI	MeSH Term	Description	Entries
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D004338	Drug Combinations	Single preparations containing two or more active agents, for the purpose of their concurrent administration as a fixed dose mixture.	Drug Combination,Combination, Drug,Combinations, Drug
D004883	Erucic Acids	cis-13-Docosenoic Acids. 22-Carbon monounsaturated, monocarboxylic acids.	Docosenoic Acids,Brassidic Acids,Acids, Brassidic,Acids, Docosenoic,Acids, Erucic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000326	Adrenoleukodystrophy	An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).	Adrenomyeloneuropathy,Schilder-Addison Complex,X-Linked Adrenoleukodystrophy,ALD (Adrenoleukodystrophy),Addison Disease and Cerebral Sclerosis,Bronze Schilder Disease,Melanodermic Leukodystrophy,Siemerling-Creutzfeldt Disease,X-ALD,X-ALD (X-Linked Adrenoleukodystrophy),Adrenoleukodystrophy, X-Linked,Leukodystrophies, Melanodermic,Leukodystrophy, Melanodermic,Schilder Addison Complex,Siemerling Creutzfeldt Disease,X ALD,X ALD (X Linked Adrenoleukodystrophy),X Linked Adrenoleukodystrophy
D014304	Triolein	(Z)-9-Octadecenoic acid 1,2,3-propanetriyl ester.	Glycerol Trioleate,Trielaidin,Trioleate-Glycerin,Trioleoylglycerol,Trioleyl Glycerol,Glycerol, Trioleyl,Trioleate Glycerin,Trioleate, Glycerol
D018380	Hematopoietic Stem Cell Transplantation	Transfer of HEMATOPOIETIC STEM CELLS from BONE MARROW or BLOOD between individuals within the same species (TRANSPLANTATION, HOMOLOGOUS) or transfer within the same individual (TRANSPLANTATION, AUTOLOGOUS). Hematopoietic stem cell transplantation has been used as an alternative to BONE MARROW TRANSPLANTATION in the treatment of a variety of neoplasms.	Stem Cell Transplantation, Hematopoietic,Transplantation, Hematopoietic Stem Cell
D020249	Hormone Replacement Therapy	Therapeutic use of hormones to alleviate the effects of hormone deficiency.	Replacement Therapy, Hormone,Therapy, Hormone Replacement,Hormone Replacement Therapies,Replacement Therapies, Hormone,Therapies, Hormone Replacement